Primary Site >> Stomach Cancer

Gene >> ABCA13

ID 1
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273428:48273428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3762G>T
AA Mutation p.Glu1254Asp(p.E1254D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 2
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272486:48272486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2820A>C
AA Mutation p.Glu940Asp(p.E940D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 3
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273535:48273535(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3869A>C
AA Mutation p.Glu1290Ala(p.E1290A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 4
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48244614:48244614(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.1301A>C
AA Mutation p.Asn434Thr(p.N434T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 5
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48273436:48273436(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3770T>C
AA Mutation p.Leu1257Pro(p.L1257P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 6
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48644707:48644707(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.15034T>G
AA Mutation p.Phe5012Val(p.F5012V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 7
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48580231:48580231(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373171750
CDS Mutation c.14362G>A
AA Mutation p.Val4788Met(p.V4788M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 8
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48392049:48392049(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11783A>G
AA Mutation p.Asp3928Gly(p.D3928G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 9
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48335520:48335520(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10098G>T
AA Mutation p.Met3366Ile(p.M3366I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 10
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48372377:48372377(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11013T>G
AA Mutation p.Phe3671Leu(p.F3671L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 11
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48511165:48511165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13606T>G
AA Mutation p.Leu4536Val(p.L4536V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 12
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272042:48272042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2376A>C
AA Mutation p.Lys792Asn(p.K792N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 13
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272206:48272206(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs117711958
CDS Mutation c.2540G>T
AA Mutation p.Arg847Ile(p.R847I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 14
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48276376:48276376(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6710T>C
AA Mutation p.Phe2237Ser(p.F2237S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 15
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48281428:48281428(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8812G>A
AA Mutation p.Val2938Ile(p.V2938I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 16
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48455175:48455175(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.12704T>A
AA Mutation p.Leu4235His(p.L4235H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 17
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520165:48520165(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13922G>T
AA Mutation p.Gly4641Val(p.G4641V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 18
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279830:48279830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8636G>A
AA Mutation p.Ser2879Asn(p.S2879N)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 19
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275994:48275994(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.6328T>C
AA Mutation p.Ser2110Pro(p.S2110P)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 20
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48298396:48298396(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.9230T>C
AA Mutation p.Ile3077Thr(p.I3077T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 21
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520246:48520246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14003T>G
AA Mutation p.Leu4668Arg(p.L4668R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 22
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48392112:48392112(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11846A>C
AA Mutation p.Lys3949Thr(p.K3949T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 23
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48219466:48219466(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.400A>G
AA Mutation p.Asn134Asp(p.N134D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 24
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278471:48278471(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7277T>G
AA Mutation p.Leu2426Arg(p.L2426R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 25
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279610:48279610(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8416A>C
AA Mutation p.Asn2806His(p.N2806H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 26
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278807:48278807(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7613C>A
AA Mutation p.Thr2538Lys(p.T2538K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 27
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48403830:48403830(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.12021C>A
AA Mutation p.Asp4007Glu(p.D4007E)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 28
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48271885:48271885(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2219T>G
AA Mutation p.Phe740Cys(p.F740C)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 29
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48279716:48279716(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.8522C>A
AA Mutation p.Thr2841Lys(p.T2841K)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 30
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520056:48520056(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13813T>C
AA Mutation p.Tyr4605His(p.Y4605H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 31
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524382:48524382(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs372286953
CDS Mutation c.14186G>A
AA Mutation p.Arg4729His(p.R4729H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 32
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272346:48272346(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2680T>G
AA Mutation p.Leu894Val(p.L894V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 33
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520218:48520218(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs369296047
CDS Mutation c.13975G>A
AA Mutation p.Val4659Met(p.V4659M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 34
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48372481:48372481(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.11117T>G
AA Mutation p.Val3706Gly(p.V3706G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 35
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48372457:48372457(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11093T>C
AA Mutation p.Val3698Ala(p.V3698A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 36
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274444:48274444(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs774675807
CDS Mutation c.4778T>C
AA Mutation p.Val1593Ala(p.V1593A)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 37
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48524366:48524366(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.14170A>G
AA Mutation p.Ser4724Gly(p.S4724G)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 38
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272311:48272311(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2645C>A
AA Mutation p.Pro882His(p.P882H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 39
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278966:48278966(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7772T>C
AA Mutation p.Leu2591Ser(p.L2591S)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 40
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48389105:48389105(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.11539G>A
AA Mutation p.Val3847Met(p.V3847M)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 41
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48372246:48372246(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10882A>C
AA Mutation p.Ser3628Arg(p.S3628R)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 42
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48272457:48272457(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.2791T>A
AA Mutation p.Ser931Thr(p.S931T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 43
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275163:48275163(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs371671347
CDS Mutation c.5497C>T
AA Mutation p.Arg1833Trp(p.R1833W)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 44
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48520215:48520215(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13972T>A
AA Mutation p.Phe4658Ile(p.F4658I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 45
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48274742:48274742(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5076C>A
AA Mutation p.Phe1692Leu(p.F1692L)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 46
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48471550:48471550(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs771458235
CDS Mutation c.12926G>A
AA Mutation p.Arg4309His(p.R4309H)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 47
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48507987:48507987(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.13462T>G
AA Mutation p.Leu4488Val(p.L4488V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 48
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275364:48275364(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.5698C>A
AA Mutation p.Leu1900Ile(p.L1900I)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 49
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48481136:48481136(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13076C>T
AA Mutation p.Ala4359Val(p.A4359V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 50
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48245869:48245869(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1498G>A
AA Mutation p.Ala500Thr(p.A500T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 51
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48241036:48241036(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs557664531
CDS Mutation c.1232G>A
AA Mutation p.Gly411Asp(p.G411D)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 52
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48275040:48275040(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs188043455
CDS Mutation c.5374G>A
AA Mutation p.Ala1792Thr(p.A1792T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 53
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48278602:48278602(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs763339803
CDS Mutation c.7408G>A
AA Mutation p.Ala2470Thr(p.A2470T)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 54
Mutation Consequence missense_variant
Transcription ID ENST00000435803
Start 48410583:48410583(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs752909768
CDS Mutation c.12134C>T
AA Mutation p.Ala4045Val(p.A4045V)
Mutation Classification Missense_Mutation
Feature Type Transcript
ID 55
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48295723:48295723(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs751801599
CDS Mutation c.8979G>A
Mutation Classification Silent
Feature Type Transcript
ID 56
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48272087:48272087(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs373518979
CDS Mutation c.2421C>T
Mutation Classification Silent
Feature Type Transcript
ID 57
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48272486:48272486(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.2820A>G
Mutation Classification Silent
Feature Type Transcript
ID 58
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48520163:48520163(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs769165172
CDS Mutation c.13920C>T
Mutation Classification Silent
Feature Type Transcript
ID 59
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48279849:48279849(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.8655T>C
Mutation Classification Silent
Feature Type Transcript
ID 60
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48392059:48392059(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs147058958
CDS Mutation c.11793C>T
Mutation Classification Silent
Feature Type Transcript
ID 61
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48241037:48241037(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.1233C>T
Mutation Classification Silent
Feature Type Transcript
ID 62
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48335460:48335460(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.10038T>G
Mutation Classification Silent
Feature Type Transcript
ID 63
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48229915:48229915(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs754765359
CDS Mutation c.723G>A
Mutation Classification Silent
Feature Type Transcript
ID 64
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48278556:48278556(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs377081983
CDS Mutation c.7362G>A
Mutation Classification Silent
Feature Type Transcript
ID 65
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48275660:48275660(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5994T>C
Mutation Classification Silent
Feature Type Transcript
ID 66
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48278634:48278634(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7440T>C
Mutation Classification Silent
Feature Type Transcript
ID 67
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48279042:48279042(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.7848T>C
Mutation Classification Silent
Feature Type Transcript
ID 68
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48520151:48520151(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.13908G>C
Mutation Classification Silent
Feature Type Transcript
ID 69
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48309976:48309976(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.9351G>A
Mutation Classification Silent
Feature Type Transcript
ID 70
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48520265:48520265(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.14022G>C
Mutation Classification Silent
Feature Type Transcript
ID 71
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48511176:48511176(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs767654042
CDS Mutation c.13617G>A
Mutation Classification Silent
Feature Type Transcript
ID 72
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48279765:48279765(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs562649631
CDS Mutation c.8571C>T
Mutation Classification Silent
Feature Type Transcript
ID 73
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48273965:48273965(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4299T>C
Mutation Classification Silent
Feature Type Transcript
ID 74
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48272927:48272927(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.3261C>T
Mutation Classification Silent
Feature Type Transcript
ID 75
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48274124:48274124(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4458T>C
Mutation Classification Silent
Feature Type Transcript
ID 76
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48275273:48275273(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.5607A>G
Mutation Classification Silent
Feature Type Transcript
ID 77
Mutation Consequence synonymous_variant
Transcription ID ENST00000435803
Start 48278793:48278793(version: GRCh38)
Mutation Type SNP
dbSNP_RS rs758227866
CDS Mutation c.7599G>A
Mutation Classification Silent
Feature Type Transcript
ID 78
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48272668:48272668(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.3003delA
AA Mutation p.Gln1001HisfsTer57(p.Q1001Hfs*57)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 79
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48273998:48273998(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4338delA
AA Mutation p.Lys1446AsnfsTer11(p.K1446Nfs*11)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 80
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48278347:48278347(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.7157delT
AA Mutation p.Phe2386SerfsTer4(p.F2386Sfs*4)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 81
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48274953:48274953(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.5291delA
AA Mutation p.Asn1764ThrfsTer18(p.N1764Tfs*18)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 82
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48403700:48403704(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.11894_11898delTAACT
AA Mutation p.Leu3965SerfsTer35(p.L3965Sfs*35)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 83
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48248272:48248272(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.1697delA
AA Mutation p.Asn566IlefsTer5(p.N566Ifs*5)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 84
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48273718:48273718(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.4055delA
AA Mutation p.Asn1352MetfsTer7(p.N1352Mfs*7)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 85
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48278177:48278177(version: GRCh38)
Mutation Type DEL
dbSNP_RS novel
CDS Mutation c.6988delT
AA Mutation p.Ser2330GlnfsTer3(p.S2330Qfs*3)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 86
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48278922:48278922(version: GRCh38)
Mutation Type DEL
dbSNP_RS null
CDS Mutation c.7735delA
AA Mutation p.Ile2579Ter(p.I2579*)
Mutation Classification Frame_Shift_Del
Feature Type Transcript
ID 87
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48272733:48272733(version: GRCh38)
Mutation Type SNP
dbSNP_RS novel
CDS Mutation c.3067G>T
AA Mutation p.Gly1023Ter(p.G1023*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 88
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48273985:48273985(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.4319G>A
AA Mutation p.Trp1440Ter(p.W1440*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 89
Mutation Consequence stop_gained
Transcription ID ENST00000435803
Start 48352365:48352365(version: GRCh38)
Mutation Type SNP
dbSNP_RS null
CDS Mutation c.10566C>A
AA Mutation p.Tyr3522Ter(p.Y3522*)
Mutation Classification Nonsense_Mutation
Feature Type Transcript
ID 90
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48278346:48278347(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.7157dupT
AA Mutation p.Thr2387HisfsTer12(p.T2387Hfs*12)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript
ID 91
Mutation Consequence frameshift_variant
Transcription ID ENST00000435803
Start 48352215:48352216(version: GRCh38)
Mutation Type INS
dbSNP_RS novel
CDS Mutation c.10418dupT
AA Mutation p.Arg3474GlnfsTer43(p.R3474Qfs*43)
Mutation Classification Frame_Shift_Ins
Feature Type Transcript